Diagnoza in zdravljenje akutne hiperamoniemije
Diagnosis and early management of acute hyperammonaemia

slovenian

2010

volume 79, issue 2

Ammonia   Amoniak   Blood   Diagnosis   diagnostika   Emergencies   Metabolic Diseases   Metabolism   Phenylacetates   Therapy

Slovensko zdravniško društvo
(Obvezni izvod spletne publikacije)

Acute hyperammonaemia is a consequence of inborn defects of urea cycle or acute liver damage. Clinical presentation varies considerably with the age of the aff ected individual and includes nausea, vomiting, neuropsychiatric symptoms, convulsions and progressive lethargy with a deepening coma. Ammonia concentration above 200 microM is a medical emergency and requires prompt treatment, regardless of its aetiology. The acute management includes restriction of protein intake, glucose infusion suffi cient to maintain anabolic state, administration of ammonia scavengers (sodium benzoate, sodium phenylacetate, sodium phenylbutyrate), administration of urea cycle substratesand haemodialysis when the concentration of ammonia is exceedingly high or does not respond promptly to the medical treatment. Elevated ammonia concentration is neurotoxic and causes irreversible glial and neuronal damage resulting in cerebral oedema with poor outcome. Early diagnosis and prompt treatment are crucial and may considerably improve the clinical course.

17.06.2010